学龄期前小儿胸部次高千伏摄影的临床评价

目的：探讨学龄期前小儿胸部次高千伏摄影的临床价值。方法：采用东芝KXD—15—R500mA的X线机，对400例学龄期前患儿分两组各200例分别进行次高千伏与普通千伏摄影，分析其影像质量及显示特点。结果：次高千伏摄影组200例学龄期前患儿胸部摄片中90例正常，110例有病变，检查阳性率占55％。而普通千伏摄影组200例学龄期前患儿胸部摄片中120例正常，80例有病变，检查阳性率占40％。结论：次高千伏摄影技术在学龄期前患儿胸部疾病的检查中具有一定的实用价值。     

腔隙性脑梗塞的临床分析

目的 分析腔隙性脑梗塞在临床中的表现。方法 收集我院多年来52例经CT证实有腔隙性脑梗塞的患的资料，对其各种可能的易患因素、梗塞部位、临床表现加以分析。结果 腔隙性脑梗塞的发病年龄为53-89岁。病变部位以基底节为最多28例(54％)，其它为双侧脑室旁、内囊、丘脑。单个梗塞灶为28例(54％)，2个以上梗塞灶为23例(44％)。并发症中，高血压病46例(88．46％)，糖尿病19例(36．5％)，心脏病17例(32．6％)，高脂血症8例(15．4％)。结论 患男性多于女性，病灶多位于基底节，其次为双侧脑室旁和内囊，易患因素为高血压、糖尿病、心脏病。     

胸腹联合伤29例临床分析

目的：总结胸腹联合伤诊断与手术治疗的经验.方法：手术治疗胸腹联合伤患者29例,其中单纯剖胸手术6例,单纯剖腹手术12例,取剖腹＋剖胸两个切口手术9例,胸腹联合切口2例.8例于术前获得诊断,9例于术中探查确诊,2例延迟诊断.结果：29例中,手术治愈25例,术后死亡4例,病死率13.7﹪.结论：胸腹联合伤病情复杂凶险,及时准确的诊断和手术是挽救患者生命的关键,手术入路选择应视具体伤情而定.     

胃间质瘤的病理特征和临床诊治分析

目的探讨胃间质瘤(GST)的临床表现、病理特征及临床诊治措施。方法对本院1996年6月-2006年6月10年间收治的经手术和病理组织学确诊的53例GST患者临床资料进行回顾性分析。结果本组病例首发症状表现为上消化道出血28例,其中包括腹部包块1例;腹痛或腹胀25例,其中包括腹部包块3例。胃镜检查发现37例,其中活检明确诊断11例,上消化道钡餐造影检查发现25例,CT检查发现33例,B超检查发现38例。本组患者均行切除,手术切除不全(1例)、术后复发(4例)或远处转移(1例)的患者应用甲磺酸依马替尼(Gleevec)辅助治疗。病理检查:良性GST患者16例(30.2%),交界性GST患者8例(15.1%),恶性29例(53.9%);肿瘤主要由梭形细胞构成19例、上皮样细胞构成11例、梭形细胞与上皮样细胞共同构成23例,恶性患者3例发现瘤巨细胞。随访1~6年,8例患者死亡,16例手术后复发,其中5例服用Gleevec部分缓解,余29例患者健在。结论GST临床表现以消化道慢性出血、上腹部不适等为主。内镜及消化道钡餐造影检查是诊断GST的主要方法。恶性多见,肿瘤主要由梭形细胞、上皮样细胞或梭形细胞与上皮样细胞共同构成。手术切除是GST的主要治疗方式,GLeevec辅助治疗不能切除或术后复发的GST具有较好的临床疗效。     

EB病毒胸腺嘧啶激酶抗体在鼻咽癌血清学诊断中的作用

目的 建立EB病毒感染和鼻咽癌血清学检测的敏感,特异和有效的方法.方法 以EB病毒早期蛋白胸腺嘧啶激酶为检测抗原,建立ELISA和免疫纤维膜条方法,检测血清中的特异性的IgG抗体.结果 用ELISA和诊断条同时检测了401份血清,其中鼻咽癌患者血清127份.两种方法检测鼻咽癌患者血清抗体均阳性,274份门诊患者血清中,55份ELISA和诊断条检测抗体均阳性,3份诊断条方法检测阳性的血清,ELISA检测A值接近临界值.对胸腺嘧啶激酶的抗体阳性率明显地高于早期蛋白P54.结论 以胸腺嘧啶激酶为检测抗原,为鼻咽癌血清学诊断和高危人群的筛查提供更有效的手段.     

胃间质瘤的病理特征和临床诊治分析

目的 探讨胃间质瘤(GST)的临床表现、病理特征及临床诊治措施.方法 对本院1996年6月-2006年6月10年问收治的经手术和病理组织学确诊的53例GST患者临床资料进行回顾性分析.结果 本组病例首发症状表现为上消化道出血28例,其中包括腹部包块1例;腹痛或腹胀25例,其中包括腹部包块3例.胃镜检查发现37例,其中活检明确诊断11例,上消化道钡餐造影检查发现25例,CT检查发现33例,B超检查发现38例.本组患者均行切除,手术切除不全(1例)、术后复发(4例)或远处转移(1例)的患者应用甲磺酸依马替尼(Gleevec)辅助治疗.病理检查:良性GST患者16例(30.2%),交界性GST患者8例(15.1%),恶性29例(53.9%);肿瘤主要由梭形细胞构成19例、上皮样细胞构成11例、梭形细胞与上皮样细胞共同构成23例,恶性患者3例发现瘤巨细胞.随访1～6年,8例患者死亡,16例手术后复发,其中5例服用Gleevec部分缓解,余29例患者健在.结论 GST临床表现以消化道慢性出血、上腹部不适等为主.内镜及消化道钡餐造影检查是诊断GST的主要方法.恶性多见,肿瘤主要由梭形细胞、上皮样细胞或梭形细胞与上皮样细胞共同构成.手术切除是GST的主要治疗方式,GLeevec辅助治疗不能切除或术后复发的GST具有较好的临床疗效.     

Fusarium infections in immunocompromised patients: Case reports and literature review

Five cases are reported ofFusarium infection in patients with aplasia following chemotherapy of leukemia. The clinical signs, diagnosis and course of the infection during treatment are outlined and discussed in conjunction with the characteristics of other cases already reported in the literature. Sixty-three cases ofFusarium infection have been reported in immunocompromised patients, 44 cases since 1985. These included patients with hematological malignancies (58 cases), especially acute leukemia (43 cases). The main sites of infection were the skin (46 cases), blood (28 cases) and lungs (13 cases). The infection was mostly diagnosed by means of skin biopsy but also by means of positive blood cultures. Forty-three strains were identified, 19 of which wereFusarium solani. Amphotericin B treatment was given in 55 cases, often combined with other antifungal agents, leukocyte transfusions or granulocyte-macrophage-colony stimulating factor. The outcome was fatal in 36 of the 63 cases reported, often due to resistance of the strain to antifungal agents, particularly amphotericin B (20 of 33 strains tested). The most important risk factor seems to be profound and prolonged aplasia. Deep mycoses due toFusarium species thus pose an important problem and are occurring in increasing numbers in immunocompromised patients. Treatment of these infections is difficult and the prognosis is poor.     

闭合性肝损伤的治疗方法选择

目的 :探讨闭合性肝损伤的治疗方法以及如何降低其病死率。方法 :对 6 7例闭合性肝损伤临床资料进行回顾性分析。结果 :非手术治疗 18例 ,其中 2例中转手术治疗 ;行手术治疗 4 9例。死亡 4例 ,其中死于失血性休克2例 ,肝功能衰竭 1例 ,多器官功能衰竭 (MOF) 1例。术后发生各种并发症 2 2例次。结论 :早期诊断、积极抗休克和正确选择治疗方法对降低闭合性肝损伤的并发症发生率和病死率至关重要     

D21S11位点定量PCR快速基因诊断先天愚型

为了探讨定量ＰＣＲ方法在分子水平对Ｄｏｗｎ 综合征基因诊断意义,本实验以ＳＴＲ（Ｄ２１Ｓ１１） 做为遗传标记,合成特异引物对１１ 例正常人（６ 例外周血,５ 例羊水）及２８ 例先天愚型患者外周血进行同位素标记ＰＣＲ 扩增后定量分析,结果显示１１ 例正常人中１０ 人呈ＤＮＡ 含量为１ ：１ 关系的两条电泳带,１ 人为１ 条带。２８ 例患者中２４ 人呈ＤＮＡ含量为２ ：１ 的两条带,３ 人为ＤＮＡ 含量为１ ：１：１ 关系的三条带,１ 人为１ 条带。实验表明Ｄ２１Ｓ１１ 位点ＳＴＲ多态是对Ｄｏｗｎ 综合征基因诊断很有应用价值的遗传标记,应用定量ＰＣＲ的方法可在２４ 小时内对先天愚型做出快速、准确的产前及临床基因诊断。     

The role of ethics in information technology decisions: a case-based approach to biomedical informatics education

The purpose of this paper is to propose a case-based approach to instruction regarding ethical issues raised by the use of information technology (IT) in healthcare. These issues are rarely addressed in graduate degree and continuing professional education programs in health informatics. There are important reasons why ethical issues need to be addressed in informatics training. Ethical issues raised by the introduction of information technology affect practice and are ubiquitous. These issues are frequently among the most challenging to young practitioners who are ill prepared to deal with them in practice. First, the paper provides an overview of methods of moral reasoning that can be used to identify and analyze ethical problems in health informatics. Second, we provide a framework for defining cases that involve ethical issues and outline major issues raised by the use of information technology. Specific cases are used as examples of new dilemmas that are posed by the introduction of information technology in healthcare. These cases are used to illustrate how ethics can be integrated with the other elements of informatics training. The cases discussed here reflect day-to-day situations that arise in health settings that require decisions. Third, an approach that can be used to teach ethics in health informatics programs is outlined and illustrated.     

Chromosomes and survival in multiple myeloma. A banding study of 25 cases

The chromosomal findings in 25 cases of multiple myeloma are reported. The chromosomes were directly prepared from bone marrow cells and studied by trypsin-Leishman banding. Abnormal stem lines were found in 16 cases (64%), and were characterized by banding in 12 cases. Twelve cases were hyperdiploid; 11 cases carried marker chromosomes, 50% of which involved chromosome No. 1. Five cases were trisomic for 1q21-1q3. A vulnerable point was located on 3q27 or 28 or 29. The two cases that carried the 14q+ marker chromosome were also the only cases with plasma cells in the peripheral blood. Based on this study and the literature it is suggested that a 14q+ is necessary for the development of plasma cell leukemia. The actuarial survival curves gave no evidence for major prognostic significance of the demonstration of an abnormal cell clone. Trisomy for 1q21-1q3 may be a bad prognostic sign. The results are discussed with special reference to the aberrations in acute nonlymphocytic leukemia as reported earlier in a series of 88 cases from this laboratory.     

2010年中国狂犬病疫情分析

目的 了解我国狂犬病持续流行相关影响因素,以其对防控工作提供基础数据.方法 采用统计分析和描述流行病学的方法对我国2010年狂犬病的流行情况进行分析.结果 2010年全国23个省817个县（区）报告狂犬病病例为2048例,较2009年下降7.46％.病例以儿童和老人发病率较高,职业以农民（69.14％）为主,男女发病比为2.44：1.全国哨点监测共上报640例个案,致伤动物以犬（87.50％）为主,暴露方式以咬伤为主,病例的暴露后自行处理率、疫苗注射率及被动免疫制剂使用率仍然较差.门诊监测病例暴露后预防处置除个别省外大部分监测点疫苗注射率达98％以上,但Ⅲ度暴露后被动免疫制剂的使用率不高.结论 2010年全国狂犬病疫情有所缓解,门诊病例暴露后预防处置情况良好,但个案病例暴露后预防处置情况依然没有得到改善.     

Sotos综合征的研究进展

Sotos综合征(MIM#117550)是一种以儿童期过度生长现象为特征的遗传病,主要表现为巨头畸形、特殊面容、骨龄提前以及不同程度的发育迟缓.目前已有数百名病例报道,具体发病率不详.约75%的病例是由NSD1基因内点突变或5q35微缺失所导致,欧裔患者多由5q35微缺失引起,而约50%日本患者主要由基因内点突变引起,仍有约25%病例未检测出NSDI基因异常,其具体致病机制尚不完全清楚.NSD1基因定位于染色体5q35,此基因编码一种组蛋白甲基化酶,该酶与转录调节过程有关.通过FISH(fluorescent in situ hybridization)分析、MLPA(multiplex ligation-dependent probe amplification)及实时定量荧光PCR反应等技术可以检测NSD1基因整体或部分缺失,直接测序可以检测出NSD1基因点突变.绝大部分NSD1基因异常为新生突变,多数为散发病例,但也发现数例家族性遗传病例.本病鉴别诊断主要为以生长过度为特征的疾病,包括Weaver综合征,Beckwith-Wiedeman综合征,脆性X染色体综合征等.目前本病尚无理想疗法,主要为对症治疗.出生后第一年内儿科随访对于本病临床并发症如脊柱侧弯及热性癫痫发作的治疗和预防监测有重要意义.     

HER2 status in gastric cancer: A comparison of two novel in situ hybridization methods (IQ FISH and dual color SISH) and two immunohistochemistry methods (A0485 and HercepTest™)

In contrast to breast HER2 testing, the optimal ISH method and antibody for gastric HER2 testing are unclear. The aim of this study was to find out gastric HER2 positivity rates in our institutional data, and to compare the two novel ISH methods with A0485 antibody and HercepTest™. IHC and ISH were carried out on gastrectomy specimens of 88 patients up to the standardly advised procedure protocols, and interpretations were also carried out up to widely accepted international protocols., HER2 expression was (−) in 65, (+) in 5, (++) in 6, and (+++) in 12 cases by A0485 IHC. IHC (+) 4 cases and (++) 3 cases were (−) by HercepTest™. One IHC (−) amplified case was (++) by HercepTest™. All A0485 and HercepTest™ (+++) 12 cases were amplified by ISH. HER2 amplification was detected in 18 (20.4%) and in 15 (17.2%) cases by SISH and FISH, respectively. Of the 18 cases, 4 showed focal heterogeneous low level amplification by SISH. Focal amplification was noted in only 2 cases by FISH. The HER2 status of our gastric cancer file is 17.2% by FISH, 20.4% by SISH. The concordance between HercepTest™/A0485 IHC and ISH is perfect in (+++) cases. Equivocal results (++) with any IHC method should be clarified by one of the molecular methods (SISH and FISH). Probably up to the higher level of heterogeneity of gastric carcinomas, there is a 4.5% dilemma of cases that are negative or weakly positive by conventional IHC methods. Therefore, regarding HER2 status in gastric carcinoma, the reliability of IHC methods should be checked.     

Ocular parasitoses and mycoses: cases diagnosed in the Central University Hospital of Sfax between 1996 and 1999

Parasitical and fungal ophthalmic infections are polymorphic and variably severe. They are rarely reported in publications. The aim of our study has been to specify the parasitic and fungal agents isolated from the ocular samples in our district (Sfax-Tunisia). We surveyed retrospectively the different ocular parasitosis and mycosis diagnosed in our laboratory (Sfax hospital) over a 4 year-period (1996-1999). Fungal ophthalmic infections were dominated by corneal localisations: 20 cases of keratomycosis secondary to: Fusarium solani (8 cases), Aspergillus fumigatus (3 cases); Aspergillus flavus (2 cases); Alternaria sp (2 cases), Candida albicans (2 cases); Fusarium dimerium (1 case); Fusarium oxysporum (1 case) and Scedosporium sp (1 case). A prolonged treatment by ketoconazole had a successful resolution in 70% of cases; 1 case of ciliar tinea caused by Trichophyton violaceum. Parasitic agents were dominated by Demodex folliculorum (32 cases), Phthirius inguinalis (6 cases) and Oestrus ovis (2 cases). Two cases of orbital hydatidosis and 2 cases of palpebral cutaneous leishmania were noted; 21 cases of ocular toxoplasmosis were treated by clindamycine. Our survey concerned not only cosmopolite parasitosis and fungi, but also some affections endemic to our district (hydatidosis and leishmaniasis) with manifestations in isolated ophthalmic localisation. Our research has underscored the need to specify types of infection by way of adequate sampling so as to treat early and then improve prognosis.     

广东省2234例遗传咨询者染色体分析

目的探讨广东地区遗传性疾病染色体异常分布情况,指导临床对遗传性疾病诊断,减少遗传性疾病的发生。方法对广东地区2234例遗传咨询者,采用淋巴细胞培养染色体常规G显带法进行观察研究。结果2234例遗传咨询者共检出异常核型238例,异常率10.65%,其中Down综合征113例(47.48%),易位25例(10.50%),倒位47例(19.75%),克氏综合征11例(4.62%),Turner综合征10例(4.20%),性逆转综合征9例(3.78%);染色体缺失7例,衍生染色体6例,18(13)-三体共4例,X-三体综合征2例,其他染色体异常4例。结论染色体畸变是儿童智力低下,成人不孕不育、流产,性征异常的一个重要原因,要实现优生优育,必需积极开展遗传咨询,产前检查和产前诊断。     

Sequence analysis of the hemagglutinin gene of measles virus isolates in Denmark 1997-1998: no evidence of persistent circulation of measles virus in Denmark

The hemagglutinin-coding region of 17 virus samples from 12 measles cases in Denmark during 1997-1998 was analysed by partial nucleotide sequencing. The cases appeared as three sporadic cases and two epidemics, both with a limited time course and geographical distribution. The measles strains identified from the three sporadic cases and two epidemics could be allocated to five different previously well-defined sequence groups consistent with the assumption that cases of measles in Denmark are due to repeated introduction from abroad rather than persistent circulation of strains in the population.     

Infektiöse Lungenerkrankungen

Infectious pulmonary diseases and pneumonias are important causes of death within the group of infectious diseases in Germany. Most cases are triggered by bacteria. The morphology of the inflammation is often determined by the agent involved but several histopathological types of reaction are possible. Histology alone is only rarely able to identify the causal agent; therefore additional microbiological diagnostics are necessary in most cases. Clinically cases are classified as community acquired and nosocomial pneumonia, pneumonia under immunosuppression and mycobacterial infections. Histologically, alveolar and interstitial as well as lobar and focal pneumonia can be differentiated.     

儿童期常见非癫癎性发作的临床及脑电图特点

目的:总结儿童期常见非癫癎性发作(Non-Epilepsy Seizure,NES)的临床及脑电图特点,以提高临床医生的诊断水平,减少误诊;并探讨视频脑电图( Video-EEG,VEEG)在诊断儿童NES中的应用价值.方法:回顾性分析2008年1月至2010年12月在我院行VEEG后诊断为NES的328例患儿的临床及脑电图资料.结果:良性新生儿肌阵挛或颤抖18例、良性非癫癎性婴儿痉挛14例、非癫癎性强直发作39例、情感性交叉擦腿19例、屏气发作9例、睡眠障碍108例、抽动障碍43例、偏头痛18例、晕厥23例、癔症性发作4例、其他33例.126例患儿监测到临床发作,且同期脑电图均未记录到癎性发放.17例癫癎患儿合并NES,21例NES合并发作间期癫癎样波发放.结论:儿童期常见各种类型NES,通过详细询问病史获得可靠的发作期症状,并辅以脑电图检查可做出正确诊断.视频脑电图是明确儿童NES的类型,鉴别NES和ES的最可靠的检查方法.     

The genetics of and associated clinical findings in humero-radial synostosis

This paper compares the manifestations of sporadic, dominantly inherited and recessively inherited humero-radial synostosis with the aim of determining ways of separating these forms on clinical grounds. The genetic forms are characterized by bilateral involvement and by lack of the distal ulnar malformations and the absence of digits that are common in the sporadic cases. The majority of patients with the dominantly inherited form have a characteristic pattern of anomalies, including brachymesophalangy, and the recessive cases have a high frequency of malformations in addition to those of the limbs. Consanguinity is frequent in the families of recessive cases. Four additional patients are presented; two of them illustrate many of the features of the phocomelic syndrome reported by Herrmann et al. (1969). A possible teratogenic cause of these cases is discussed.